If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 11 | 4 | 60 | 11 | 11 | 96 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CFAP418 | 9 | 3 | 48 | 10 | 10 | 79 |
| CFAP418, LOC130000784 | 2 | 1 | 12 | 1 | 1 | 17 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 38 | 7 | 11 | 56 |
| Fulgent Genetics, Fulgent Genetics | 1 | 1 | 16 | 3 | 0 | 21 |
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| 3billion | 0 | 1 | 2 | 0 | 0 | 3 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 1 | 1 | 0 | 2 |
| Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | 0 | 2 | 0 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 1 |
| Palindrome, Gene Kavoshgaran Aria | 1 | 0 | 0 | 0 | 0 | 1 |
| Tolun Lab, Human Genetics Laboratory, Bogazici University | 0 | 0 | 1 | 0 | 0 | 1 |